Submissions for variant NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser)

gnomAD frequency: 0.00218  dbSNP: rs140666848

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000202672	SCV000257834	benign	not specified	2015-07-10	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000202672	SCV000337722	likely benign	not specified	2015-12-02	criteria provided, single submitter	clinical testing
Invitae	RCV001080665	SCV000652613	benign	Combined immunodeficiency due to LRBA deficiency	2024-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000659004	SCV000780807	likely benign	not provided	2023-09-01	criteria provided, single submitter	clinical testing	LRBA: BS2
GeneDx	RCV000659004	SCV001872970	uncertain significance	not provided	2021-04-21	criteria provided, single submitter	clinical testing	Identified in two consanguinious LRBA-deficient siblings in the published literature with primary immunodeficiency who also had a homozygous frameshift variant in the LRBA gene that was believed to be the cause of their symptoms (Seidel et al., 2015); Identified in multiple affected relatives in a large pedigree in the published literature with Hirschsprung disease in addition to a relative with functional constipation and multiple unaffected relatives (Sribudiani et al., 2018); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 25539626, 29601828)
Genetic Services Laboratory, University of Chicago	RCV000202672	SCV002064858	likely benign	not specified	2019-12-20	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003927868	SCV004738366	likely benign	LRBA-related disorder	2022-05-19	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Clinical Genetics, Erasmus University Medical Center	RCV000508598	SCV000328914	uncertain significance	Hirschsprung disease, susceptibility to, 1	2016-11-18	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000659004	SCV001932395	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000659004	SCV001970695	likely benign	not provided		no assertion criteria provided	clinical testing